ClinVar Miner

List of variants reported as likely benign for Molybdenum cofactor deficiency, complementation group A

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Total variants: 16
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HGVS dbSNP
NM_001075098.3(MOCS1):c.[853G>A;c.1015C>T]
NM_001358530.2(MOCS1):c.*120C>T
NM_001358530.2(MOCS1):c.*1424C>G rs151159237
NM_001358530.2(MOCS1):c.*1629G>A
NM_001358530.2(MOCS1):c.*1909A>G rs73732316
NM_001358530.2(MOCS1):c.*1911C>A
NM_001358530.2(MOCS1):c.*327G>A rs112129067
NM_001358530.2(MOCS1):c.*826A>C
NM_001358530.2(MOCS1):c.*990T>C rs192141515
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp) rs201889779
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343
NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) rs61732596
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) rs41285470

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